Abstrakt: |
A recent report from the Federal University of Minas Gerais (UFMG) in Brazil discusses the clinical, laboratory, and molecular characteristics of a group of children with hemoglobinopathy S/beta-thalassemia (HbSb-thal). The study identified 14 alleles of beta-thalassemia mutations and estimated the incidence of HbSb-thal in Minas Gerais to be 1 per 22,250 newborns. The research found that beta-thalassemia mutations were associated with various clinical and laboratory features, and children with HbSb+-intermediate phenotypes had a more severe profile compared to those with HbSb+-mild phenotypes. The study suggests that early identification of beta-thalassemia alleles can aid in the clinical management of affected children. [Extracted from the article] |